A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721135



Internal ID144801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8325925..8325962hg38UCSC Ensembl
chr19:8390809..8390846hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550406
Supporting Variants
Samples
Known GenesKANK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721135
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005313


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